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Cellosaurus EMe-NH6W523K17 (CVCL_A0KN)

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Cell line name EMe-NH6W523K17
Synonyms 403-S7-KI-17
Accession CVCL_A0KN
Resource Identification Initiative To cite this cell line use: EMe-NH6W523K17 (RRID:CVCL_A0KN)
Comments From: Cincinnati Children's Hospital Medical Center Pluripotent Stem Cell Facility; Cincinnati; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11079; SLC9A6; Simple_corrected; p.Trp523Ter (c.1569G>A); Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=34182254).
Disease Intellectual developmental disorder, X-linked syndromic, Christianson type (NCIt: C181001)
Christianson syndrome (ORDO: Orphanet_85278)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A0KL (EMe-NH6W523XS7)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34182254; DOI=10.1016/j.scr.2021.102435; PMCID=PMC8375322
Li Ma, Michael Schmidt, Eric M. Morrow;
Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls.
Stem Cell Res. 54:102435-102435(2021)

Cross-references
Encyclopedic resources Wikidata; Q108820191
Entry history
Entry creation23-Sep-2021
Last entry update27-Nov-2025
Version number6